Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of the cerebral subcortex (HP:0010993)help
Parent Node:
expandAbnormality of the basal ganglia (HP:0002134)help
..Starting node
..expandAbnormal basal ganglia MRI signal intensity (HP:0012751)help
Term ID: 12751
Name: Abnormal basal ganglia MRI signal intensity
Synonym:
Definition: A deviation from normal signal on magnetic resonance imaging (MRI) of the basal ganglia.
Comments:
Reference: HP:0012751
Genes and Diseases:
 
       Child Nodes:
........expandFocal T2 hyperintense basal ganglia lesion (HP:0007183) help
........expandFocal T2 hypointense basal ganglia lesion (HP:0012752) help
........expandT2 hypointense basal ganglia (HP:0012753) help

 Sister Nodes: 
..expandAbnormal corpus striatum morphology (HP:0010994) help
..expandAbnormal globus pallidus morphology (HP:0002453) help
..expandAbnormal substantia nigra morphology (HP:0045007) help
..expandBasal ganglia calcification (HP:0002135) help
..expandBasal ganglia cysts (HP:0006799) help
..expandBasal ganglia edema (HP:0025039) help
..expandBasal ganglia gliosis (HP:0006999) help
..expandBasal ganglia necrosis (HP:0012128) help
..expandBilateral basal ganglia lesions (HP:0007146) help
..expandCavitation of the basal ganglia (HP:0007007) help
..expandDysgenesis of the basal ganglia (HP:0025102) help
..expandHemiballismus (HP:0100248) help
..expandLarge basal ganglia (HP:0007048) help
..expandNeuronal loss in basal ganglia (HP:0200147) help
..expandSmall basal ganglia (HP:0012697) help
..expandStatus cribrosum (HP:0025012) help
..expandSymmetric lesions of the basal ganglia (HP:0007039) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0ETHE1 CL E G H2347451188ORPHA133823287608451
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0GLI3 CL E G H2737672Angiofollicular ganglionic hyperplasiaORPHA19814319165240
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0MICU1 CL E G H10367401768ORPHA12651530605084
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0MT-ATP6 CL E G H4508644ORPHA17414516060
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0NADK2 CL E G H133686431361ORPHA122126404615787
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0SLC30A10 CL E G H55532309854ORPHA127525355611146
HP:0012751HP:0012753T2 hypointense basal ganglia1ETHE1 CL E G H2347451188ORPHA133823287608451
HP:0012751HP:0012752Focal T2 hypointense basal ganglia lesion1ETHE1 CL E G H2347451188ORPHA133823287608451
HP:0012751HP:0007183Focal T2 hyperintense basal ganglia lesion1ETHE1 CL E G H2347451188ORPHA133823287608451
HP:0012751HP:0012753T2 hypointense basal ganglia1GLI3 CL E G H2737672Angiofollicular ganglionic hyperplasiaORPHA19814319165240
HP:0012751HP:0012752Focal T2 hypointense basal ganglia lesion1GLI3 CL E G H2737672Angiofollicular ganglionic hyperplasiaORPHA19814319165240
HP:0012751HP:0007183Focal T2 hyperintense basal ganglia lesion1GLI3 CL E G H2737672Angiofollicular ganglionic hyperplasiaORPHA19814319165240
HP:0012751HP:0012753T2 hypointense basal ganglia1MICU1 CL E G H10367401768ORPHA12651530605084
HP:0012751HP:0012752Focal T2 hypointense basal ganglia lesion1MICU1 CL E G H10367401768ORPHA12651530605084
HP:0012751HP:0007183Focal T2 hyperintense basal ganglia lesion1MICU1 CL E G H10367401768ORPHA12651530605084
HP:0012751HP:0012753T2 hypointense basal ganglia1MT-ATP6 CL E G H4508644ORPHA17414516060
HP:0012751HP:0012752Focal T2 hypointense basal ganglia lesion1MT-ATP6 CL E G H4508644ORPHA17414516060
HP:0012751HP:0007183Focal T2 hyperintense basal ganglia lesion1MT-ATP6 CL E G H4508644ORPHA17414516060
HP:0012751HP:0012753T2 hypointense basal ganglia1NADK2 CL E G H133686431361ORPHA122126404615787
HP:0012751HP:0012752Focal T2 hypointense basal ganglia lesion1NADK2 CL E G H133686431361ORPHA122126404615787
HP:0012751HP:0007183Focal T2 hyperintense basal ganglia lesion1NADK2 CL E G H133686431361ORPHA122126404615787
HP:0012751HP:0012753T2 hypointense basal ganglia1SLC30A10 CL E G H55532309854ORPHA127525355611146
HP:0012751HP:0012752Focal T2 hypointense basal ganglia lesion1SLC30A10 CL E G H55532309854ORPHA127525355611146
HP:0012751HP:0007183Focal T2 hyperintense basal ganglia lesion1SLC30A10 CL E G H55532309854ORPHA127525355611146
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (37) :ATP6 COQ8A COX15 ECHS1 ETHE1 FOXRED1 GLI3 LIPT1 MICU1 MT-ATP6 MTFMT NADK2 NDUFA10 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA9 NDUFAF2 NDUFAF5 NDUFAF6 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS7 NDUFS8 NDUFV1 NDUFV2 PDHA1 PET100 PRNP SDHA SLC19A3 SLC30A10 SURF1 TACO1

Diseases (10) :644 51188 672 401768 431361 309854 139485 255241 602473 282166
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.